Barbara K Burton

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

S. Robertson, M. Simpson, R. Trembath, 2011, Nature Genetics.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Challenges and strategies for clinical trials in propionic and methylmalonic acidemias.

J. Ganju, J. Vockley, N. Longo, 2023, Molecular genetics and metabolism.

Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy

P. Kishnani, Ankit K. Desai, E. Vucko, 2023, Molecular genetics and metabolism reports.